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1 OMIM reference -
2 associated genes
33 signs/symptoms
PROTEIN INTERACTIONS: 2
COMMON SIGNS: 1
2 OMIM references -
4 associated genes
9 signs/symptoms
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
Pontocerebellar hypoplasia type 1

HBA1 EXOSC3
HBA2 RARS2
TSEN54
VRK1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HBA1
HBA2
(0.63)
(0.63)
VRK1
VRK1



Citations in the biomedical literature:


Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
HBA1 HBA2
Pontocerebellar hypoplasia type 1
EXOSC3 RARS2 TSEN54 VRK1



Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
Pontocerebellar hypoplasia type 1

Synonym(s):
- ATR syndrome linked to chromosome 16
- ATR syndrome, deletion type
- ATR-16 syndrome
- Alpha thalassemia - intellectual deficit syndrome, deletion type
- Alpha thalassemia - retardation syndrome

Synonym(s):
- Norman disease
- PCH1

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare hematologic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
2 OMIM references -
1 MeSH reference: C548069


COMMON
SIGNS
- Microcephaly


Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
Pontocerebellar hypoplasia type 1

Very frequent
- Asthenia / fatigue / weakness
- Hemoglobinosis / hemoglobinopathy
- Insterstitial / subtelomeric microdeletion / deletion
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Microcytic anemia
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Frequent
- Broad forehead
- Broad nasal root
- Bruisability
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Epicanthic folds
- Failure to thrive / difficulties for feeding in infancy / growth delay
- High forehead
- High vaulted / narrow palate
- Hypertelorism
- Hypotonia
- Low set ears / posteriorly rotated ears
- Micrognathia / retrognathia / micrognathism / retrognathism
- Mid-facial hypoplasia / short / small midface
- Pectus carinatum
- Short foot / brachydactyly of toes
- Short neck
- Short stature / dwarfism / nanism
- Small / hypoplastic / adherent / absent ear lobe
- Talipes-varus / metatarsal varus
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- Absent / decreased / thin eyebrows
- Autosomal dominant inheritance
- Contractures / cramps / trismus / tetania / claudication / opisthotonos
- Flat supraorbital ridge
- Frontal bossing / prominent forehead
- Hypospadias / epispadias / bent penis


Very frequent
- Autosomal recessive inheritance
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Hypertonia / spasticity / rigidity / stiffness
- Restricted joint mobility / joint stiffness / ankylosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Stillbirth / neonatal death

Frequent
- Clinodactyly of fingers 1,2,3,4 / overlapping fingers